Partial duplication of the APBA2 gene in chromosome 15q13 corresponds to duplicon structures.

ABSTRACT:

Background

Chromosomal abnormalities affecting human chromosome 15q11-q13 underlie multiple genomic disorders caused by deletion, duplication and triplication of intervals in this region. These events are mediated by highly homologous segments of DNA, or duplicons, that facilitate mispairing and unequal cross-over in meiosis. The gene encoding an amyloid precursor protein-binding protein (APBA2) was previously mapped to the distal portion of the interval commonly deleted in Prader-Willi and Angelman syndromes and duplicated in cases of autism.

Results

We show that this gene actually maps to a more telomeric location and is partially duplicated within the broader region. Two highly homologous copies of an interval containing a large 5' exon and downstream sequence are located

SUBMITTER: Sutcliffe JS 

PROVIDER: S-EPMC156605 | biostudies-literature | 2003 Apr

REPOSITORIES: biostudies-literature